Shuyuan L. Li

No. 910 Hengshan Road
Xuhui, 200030, China

Last Updated: 09/26/2026

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Found 45 publications

Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene.

Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene.

Journal: Intractable & rare diseases research

Published: March 20, 2026

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum.

Journal: Human genomics

Published: January 20, 2026

A Diagnostic Odyssey in a Family with Multiple Osteochondromas.

A Diagnostic Odyssey in a Family with Multiple Osteochondromas.

Journal: The journal of applied laboratory medicine

Published: December 03, 2025

Metagenomic next-generation sequencing for efficient detection of human parvovirus B19 in amniotic fluid: a case study of diagnosis and prenatal management of fetal infection.

Metagenomic next-generation sequencing for efficient detection of human parvovirus B19 in amniotic fluid: a case study of diagnosis and prenatal management of fetal infection.

Journal: BMC pregnancy and childbirth

Published: October 19, 2025

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Journal: Human genomics

Published: October 14, 2025

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.

Journal: Molecular genetics & genomic medicine

Published: September 19, 2025

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies.

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: September 02, 2025

Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional Assays.

Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional Assays.

Journal: The Journal of molecular diagnostics : JMD

Published: July 22, 2025

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.

Journal: Clinical chemistry

Published: July 14, 2025

A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy.

A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy.

Journal: The Journal of molecular diagnostics : JMD

Published: June 03, 2025

Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.

Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function.

Journal: Human molecular genetics

Published: March 09, 2025

First trimester, one-tube screening for pregnancy complications via placental biomarkers.

First trimester, one-tube screening for pregnancy complications via placental biomarkers.

Journal: BMC pregnancy and childbirth

Published: February 13, 2025

Showing 1-12 of 45

Last Updated: 09/26/2026